Abstract
A comparative study of clinical, hematologic, and cytogenetic findings was made in 40 black and 35 white children with Fanconi anemia. The black children were Bantu‐speaking Negroid stock of diverse tribal origin. The white children were predominantly Afrikaans stock of Dutch/German/French Huguenot origin. All of the patients had IFAR scores of 2 to 4+ and over 80% in each group had increased spontaneous and/or mutagen‐induced chromosomal breakage (CB‐positive). There were no significant clinical differences between black and white patients or between CB‐pos and CB‐neg patients, with the exception of white children in whom significantly more CB‐pos patients had thumb and radial anomalies than the CB‐neg patients. The age‐at‐onset of hematologic manifestations was the same for all groups, but more black than white CB‐pos patients were severely anemic at the time of diagnosis.
Response to androgen and steroid therapy occurred in only 33% of black children compared with 86–90% of white children; 81% of black patients died during the 18 year study period compared with 30% of white children, but the age at death was similar. More sophisticated studies are required to determine whether these differences are genetically determined or related to cultural, educational, and socio‐economic differences between the two ethnic groups. © 1994 Wiley‐Liss, Inc.